distinct cytogenetic abnormality in case of splenic marginal zone lymphoma

Background: Splenic marginal zone lymphoma (SMZL) is rare low-grade B-cell lymphoma.Cytogenetic and/or molecular genetic abnormalities had been reported in70% to 80% of cases. Themost frequent cytogenetic abnormalities are deletions at the 7q22-q32 band, followed by gains ofchromosome 3/3q. Complex karyotypes are common in SMZL: the chromosomes that frequentlyinvolved are 1, 3, 7, 8, and 14.Here we report case of SMZL with distinct cytogeneticabnormality. She was misdiagnosed as Myelo dysplastic syndrome (MDS) years ago.Case Report: 53 y/o female was admitted with abdominal pain and pancytopenia. She hadhistory of pancytopenia since years ago that was underwent bone marrow aspiration and biopsythat revealed bone marrow necrosis with suboptimal biopsy and vitamin B12 Folic acid andvitamin B6 had been administered with the diagnosis of MDS.Physical exam revealed fever, pallor and massive splenomegaly. Laboratory findings were includedHemoglobin=5.7 gr/dl, Platelet count=87000/µl, WBC count=3000/µl (L=70%, N=30%)Peripheral blood smear showed: leukopenia, small lymphocytes that some of them had villouscytoplasmic projections and moderate thrombocytopenia.Flow cytometry showed: an abnormal mature cell population (about 50% of the lymphocyte gate)that were positive for CD19, CD 20 and with kappa light chain restriction and were negative forCD5, CD23, CD10, FMC7, CD103, CD123, and CD200and CD38.Cytogenetic study revealed:46XX,der(1)add(1)(q32)inv(1)(p31q32),del(5)(q22q34),add(6)(p22),del(7)(q32q36),del(8)(p12),add(12)(p12),der(16)t(16;17)(p13.1;q22),-17,+mar[4]/46,XX[46].Due to pancytopenia, huge splenomegaly, some lymphocytes with cytoplasmic projections in bloodsmear, findings of the flow cytometry and cytogenetic study the diagnosis of SMZL was made Results: In this case of SMZL that was labeled as MDS years ago, cytogenetic study revealed adistinct complex cytogenetic abnormality.Conclusion: Complex karyotypes have been reported in patients with MDS and SMZL. Deletion ofthe long arms of chromosome and are frequent abnormalities in MDS. It seems that the samemechanisms are involved in the etiology and pathogenesis of SMZL and MDS.